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American Journal of Medical Genetics. Part A
|
September 12, 2023
Systematic ophthalmologic evaluation in cardio-facio-cutaneous syndrome: A genotype-endophenotype correlation
Emanuele Crincoli, Chiara Leoni, Germana Viscogliosi, et al.
Acta Radiologica (Stockholm, Sweden : 1987)
|
November 15, 2021
Impairment of motor skills in children with achondroplasia-usefulness of brain and cranio-cervical junction evaluation by quantitative magnetic resonance imaging: a case-control study
Rosalinda Calandrelli, Fabio Pilato, Luca Massimi, et al.
European Journal of Pediatrics
|
October 7, 2025
Application of the neonatal 'floppy module' to older infants: can it be used for differential diagnosis?
Costanza Cutrona, Martina Sbarbati, Martina Malaspina, et al.
American Journal of Medical Genetics. Part A
|
July 24, 2012
Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions
Roberta Onesimo, Daniela Orteschi, Maria Scalzone, et al.
American Journal of Medical Genetics. Part A
|
March 24, 2016
Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation
Chiara Leoni, Christopher T Gordon, Giacomo Della Marca, et al.
International Journal of Language & Communication Disorders
|
February 3, 2023
Cross-cultural adaptation and validation of the Italian version of the Montreal Children's Hospital Feeding Scale in a special healthcare needs population
Elisabetta Sforza, Roberta Onesimo, Elizabeth Katherine Triumbari, et al.
Clinical Genetics
|
April 24, 2019
Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia
Chiara Leoni, Roberta Onesimo, Nicoletta Resta, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
December 14, 2022
Management of nutritional and gastrointestinal issues in RASopathies: A narrative review
Roberta Onesimo, Valentina Giorgio, Germana Viscogliosi, et al.
American Journal of Medical Genetics. Part A
|
March 12, 2019
Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients
Chiara Leoni, Elizabeth Katherine Anna Triumbari, Catello Vollono, et al.
The Pediatric Infectious Disease Journal
|
May 15, 2020
Children's Healthcare During Corona Virus Disease 19 Pandemic: the Italian Experience
Danilo Buonsenso, Roberta Onesimo, Piero Valentini, et al.
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Search research articles
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Showing results (31-40 of 111) with videos related to
Sort By:
Page
of 12
American Journal of Medical Genetics. Part A
|
September 12, 2023
Systematic ophthalmologic evaluation in cardio-facio-cutaneous syndrome: A genotype-endophenotype correlation
Emanuele Crincoli, Chiara Leoni, Germana Viscogliosi, et al.
Acta Radiologica (Stockholm, Sweden : 1987)
|
November 15, 2021
Impairment of motor skills in children with achondroplasia-usefulness of brain and cranio-cervical junction evaluation by quantitative magnetic resonance imaging: a case-control study
Rosalinda Calandrelli, Fabio Pilato, Luca Massimi, et al.
European Journal of Pediatrics
|
October 7, 2025
Application of the neonatal 'floppy module' to older infants: can it be used for differential diagnosis?
Costanza Cutrona, Martina Sbarbati, Martina Malaspina, et al.
American Journal of Medical Genetics. Part A
|
July 24, 2012
Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions
Roberta Onesimo, Daniela Orteschi, Maria Scalzone, et al.
American Journal of Medical Genetics. Part A
|
March 24, 2016
Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation
Chiara Leoni, Christopher T Gordon, Giacomo Della Marca, et al.
International Journal of Language & Communication Disorders
|
February 3, 2023
Cross-cultural adaptation and validation of the Italian version of the Montreal Children's Hospital Feeding Scale in a special healthcare needs population
Elisabetta Sforza, Roberta Onesimo, Elizabeth Katherine Triumbari, et al.
Clinical Genetics
|
April 24, 2019
Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia
Chiara Leoni, Roberta Onesimo, Nicoletta Resta, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
December 14, 2022
Management of nutritional and gastrointestinal issues in RASopathies: A narrative review
Roberta Onesimo, Valentina Giorgio, Germana Viscogliosi, et al.
American Journal of Medical Genetics. Part A
|
March 12, 2019
Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients
Chiara Leoni, Elizabeth Katherine Anna Triumbari, Catello Vollono, et al.
The Pediatric Infectious Disease Journal
|
May 15, 2020
Children's Healthcare During Corona Virus Disease 19 Pandemic: the Italian Experience
Danilo Buonsenso, Roberta Onesimo, Piero Valentini, et al.
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of 12